A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588199



Internal ID16375608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18913491..19020595hg38UCSC Ensembl
Innerchr22:18901004..19008108hg19UCSC Ensembl
Innerchr22:17281004..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38107105
hg19107105
hg18107105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7977n54
Supporting Variantsnssv951681, nssv951680
Samples
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588199
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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